Figure 1
Figure 1. Schematic overview of SRSF2 protein organization, mutation type, and mutation frequency. SRSF2 consists of an RRM (AA 14-92; light gray box), a linker region (white box), and an RS-rich domain (AA 117-221; dark gray box). The 4 different mutation types and their mutation localization are indicated in red. The mutation frequency is listed and also shown as black triangles above each mutation type. Each triangle is representing 1 mutated case. From top to bottom, Pro95 missense mutations, p.Pro95_Arg102del;Pro107His, p.Arg86_Gly93dup, and p.Arg94_Pro95insArg alterations are depicted.

Schematic overview of SRSF2 protein organization, mutation type, and mutation frequency. SRSF2 consists of an RRM (AA 14-92; light gray box), a linker region (white box), and an RS-rich domain (AA 117-221; dark gray box). The 4 different mutation types and their mutation localization are indicated in red. The mutation frequency is listed and also shown as black triangles above each mutation type. Each triangle is representing 1 mutated case. From top to bottom, Pro95 missense mutations, p.Pro95_Arg102del;Pro107His, p.Arg86_Gly93dup, and p.Arg94_Pro95insArg alterations are depicted.

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